Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 3 | 2005 | 2014 | ||||
|
1 | 1.000 | 17 | 17216395 | missense variant | G/A;C;T | snv | 6.9E-05; 8.2E-06; 1.6E-05 | 0.700 | 1.000 | 3 | 2005 | 2008 | |||||
|
3 | 0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 2 | 2002 | 2005 | |||||
|
3 | 0.925 | 0.080 | 17 | 17219126 | frameshift variant | -/GTACTCTCTGGCAACACAGGGGCTTTCT | delins | 4.0E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 17 | 17215183 | splice donor variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 0.882 | 0.120 | 17 | 17222501 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 17 | 17227900 | frameshift variant | CGAC/- | delins | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.240 | 17 | 17222500 | splice donor variant | C/A;G | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 17 | 17224069 | inframe deletion | AAG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 17 | 17214987 | frameshift variant | TCCA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 17224136 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 17217070 | frameshift variant | GAAGTACTTCAAAAGCTGAC/- | delins | 0.700 | 0 |